[The importance of medical genetics study for the early diagnosis of mucoviscidosis].
The method of specific DNA amplification was used to study the polymorphism of the length of restriction fragment in the system CS-7 and KM-19 locus D7S23 in the family C. It is shown that cohesion of alleles A2 and B2 with mutation of mucoviscidosis and presence of a mucoviscidosis gene occurred in a healthy sibling. The family C, is prospective for prenatal diagnosis of mucoviscidosis by the method of specific DNA amplification in the system KM-19 restrictase Pst-1 and CS-7-Hinf-6-1.
Livshits
L A
LA
Gorovenko
N G
NG
Ivashchenko
T E
TE
Buzhievskaia
T I
TI
D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000235:genetics; D005796:Genes; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
D004247:DNA
Znachenie mediko-geneticheskogo issledovaniia dlia ranneĭ diagnostiki mukovistsidoza.